GPT2 Gene Summary [Human]
This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | GPT2 |
| Official Name | glutamic--pyruvic transaminase 2 [Source:HGNC Symbol;Acc:HGNC:18062] |
| Ensembl ID | ENSG00000166123 |
| Bio databases IDs | |
| Aliases | glutamic--pyruvic transaminase 2, alanine aminotransferase 2 |
| Synonyms | 4631422C05RIK, ALT2, Cc2-5, glutamic pyruvate transaminase (alanine aminotransferase) 2, glutamic--pyruvic transaminase 2, LOC100909925, MRT49, NEDSPM |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GPT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tyrosine/nicotianamine family aminotransferase
- tyrosine aminotransferase, eukaryotic
- AAT_I
- enzyme
- Aminotransferase class I and II
- alanine transaminase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- neoplasia
- colorectal cancer
- metastasis
- epithelial cancer
- hereditary disorder
- neurodevelopmental disorder with spastic paraplegia and microcephaly
- autosomal dominant spastic paraplegia type 73
- liver cancer
- non-small cell lung cancer
role in cell
- proliferation
- expression in
- production in
- cell death
- growth
- phosphorylation in
- cell viability
- number
- migration
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- Nucleus
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- biosynthetic process
- L-alanine metabolic process
- L-alanine catabolic process
- 2-oxoglutarate metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- L-alanine:2-oxoglutarate aminotransferase activity